Mugneret F, Dastugue N, Favre B, Sidaner I, Salles B, Huguet-Rigal F, Solary E
Laboratory of Cytogenetics, Faculty of Medicine, Dijon, France.
Br J Haematol. 1995 May;90(1):119-24. doi: 10.1111/j.1365-2141.1995.tb03389.x.
The der(16)t(1;16)(q11;q11) is a frequent recurrent rearrangement in solid tumours such as breast carcinomas and Ewings sarcomas. Recently, this abnormality was described also in multiple myeloma. We identified a der(16)t(1;16)(q11;q11) in three patients with myelodysplastic syndrome, either during preleukaemic phase (n = 2) or at the time of blastic transformation (n = 1). Breakpoints were ascertained by fluorescence in situ hybridization (FISH) using specific centromeric alpha-satellite probes and whole chromosome painting for chromosome 1 and chromosome 16. These observations, combined with isolated cases of the literature, suggest that der(16)t(1;16)(q11; q11) is a nonrandom abnormality associated with myelodysplastic syndromes.
der(16)t(1;16)(q11;q11)是实体瘤（如乳腺癌和尤因肉瘤）中常见的反复出现的重排。最近，这种异常也在多发性骨髓瘤中被描述。我们在3例骨髓增生异常综合征患者中鉴定出der(16)t(1;16)(q11;q11)，其中2例处于白血病前期，1例处于原始细胞转化期。通过使用特定的着丝粒α-卫星探针以及1号和16号染色体的全染色体涂染进行荧光原位杂交（FISH）来确定断点。这些观察结果，结合文献中的个别病例，提示der(16)t(1;16)(q11;q11)是一种与骨髓增生异常综合征相关的非随机异常。
